{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16618279", "communityStandardTitle": [ "NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406860[alleleid]", "alleleId": 406860, "preferredName": "NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423882", "RCV": [ "RCV000487207", "RCV002489177" ], "variationId": 423882 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.33139582G>A?assembly=hg19", "id": "chr6:g.33139582G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.33171805G>A?assembly=hg38", "id": "chr6:g.33171805G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/911722283", "rs": 911722283 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-33139582-G-A?dataset=gnomad_r2_1", "id": "6-33139582-G-A", "variant": "6:33139582 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-33171805-G-A?dataset=gnomad_r3", "id": "6-33171805-G-A", "variant": "6:33171805 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-33171805-G-A?dataset=gnomad_r4", "id": "6-33171805-G-A", "variant": "6:33171805 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 33171805, "referenceAllele": "G", "start": 33171804 } ], "hgvs": [ "NC_000006.12:g.33171805G>A", "CM000668.2:g.33171805G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 33139582, "referenceAllele": "G", "start": 33139581 } ], "hgvs": [ "NC_000006.11:g.33139582G>A", "CM000668.1:g.33139582G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 33247560, "referenceAllele": "G", "start": 33247559 } ], "hgvs": [ "NC_000006.10:g.33247560G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 25664, "referenceAllele": "C", "start": 25663 } ], "hgvs": [ "NG_011589.1:g.25664C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001838" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3285, "referenceAllele": "C", "start": 3284 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "ENST00000341947.7:c.3058C>T" ], "proteinEffect": { "hgvs": "ENSP00000339915.2:p.Arg1020Ter", "hgvsWellDefined": "ENSP00000339915.2:p.Arg1020_Gly1736delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748030", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341947.7:c.3058C>T" }, "RefSeq": { "hgvs": "NM_080680.3:c.3058C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000339915.2:p.Arg1020Ter" }, "RefSeq": { "hgvs": "NP_542411.2:p.Arg1020Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3286, "referenceAllele": "C", "start": 3285 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "ENST00000341947.6:c.3058C>T" ], "proteinEffect": { "hgvs": "ENSP00000339915.2:p.Arg1020Ter", "hgvsWellDefined": "ENSP00000339915.2:p.Arg1020_Gly1736delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261444" }, { "coordinates": [ { "allele": "T", "end": 2965, "referenceAllele": "C", "start": 2964 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "ENST00000361917.5:c.2737C>T" ], "proteinEffect": { "hgvs": "ENSP00000355123.1:p.Arg913Ter", "hgvsWellDefined": "ENSP00000355123.1:p.Arg913_Gly1629delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265710" }, { "coordinates": [ { "allele": "T", "end": 3059, "referenceAllele": "C", "start": 3058 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "ENST00000374708.8:c.2800C>T" ], "proteinEffect": { "hgvs": "ENSP00000363840.4:p.Arg934Ter", "hgvsWellDefined": "ENSP00000363840.4:p.Arg934_Gly1650delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270371" }, { "coordinates": [ { "allele": "T", "end": 272, "endIntronDirection": "+", "endIntronOffset": 5204, "referenceAllele": "C", "start": 272, "startIntronDirection": "+", "startIntronOffset": 5203 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "ENST00000477772.1:n.272+5204C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318515" }, { "@id": "http://reg.genome.network/allele/PA2830129906", "coordinates": [ { "allele": "T", "end": 2965, "referenceAllele": "C", "start": 2964 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080679.2:c.2737C>T" ], "proteinEffect": { "hgvs": "NP_542410.2:p.Arg913Ter", "hgvsWellDefined": "NP_542410.2:p.Arg913_Gly1629delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040241" }, { "@id": "http://reg.genome.network/allele/PA645421449", "coordinates": [ { "allele": "T", "end": 3286, "referenceAllele": "C", "start": 3285 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080680.2:c.3058C>T" ], "proteinEffect": { "hgvs": "NP_542411.2:p.Arg1020Ter", "hgvsWellDefined": "NP_542411.2:p.Arg1020_Gly1736delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040242" }, { "@id": "http://reg.genome.network/allele/PA916057781", "coordinates": [ { "allele": "T", "end": 3028, "referenceAllele": "C", "start": 3027 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080681.2:c.2800C>T" ], "proteinEffect": { "hgvs": "NP_542412.2:p.Arg934Ter", "hgvsWellDefined": "NP_542412.2:p.Arg934_Gly1650delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040243" }, { "coordinates": [ { "allele": "T", "end": 3104, "referenceAllele": "C", "start": 3103 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514298.1:c.2212C>T" ], "proteinEffect": { "hgvs": "XP_011512600.1:p.Arg738Ter", "hgvsWellDefined": "XP_011512600.1:p.Arg738_Gly1454delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081523" }, { "coordinates": [ { "allele": "T", "end": 2580, "referenceAllele": "C", "start": 2579 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514299.1:c.2344C>T" ], "proteinEffect": { "hgvs": "XP_011512601.1:p.Arg782Ter", "hgvsWellDefined": "XP_011512601.1:p.Arg782_Gly1498delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081524" }, { "coordinates": [ { "allele": "T", "end": 2400, "referenceAllele": "C", "start": 2399 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514300.1:c.2164C>T" ], "proteinEffect": { "hgvs": "XP_011512602.1:p.Arg722Ter", "hgvsWellDefined": "XP_011512602.1:p.Arg722_Gly1438delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081525" }, { "coordinates": [ { "allele": "T", "end": 2337, "referenceAllele": "C", "start": 2336 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514301.1:c.2101C>T" ], "proteinEffect": { "hgvs": "XP_011512603.1:p.Arg701Ter", "hgvsWellDefined": "XP_011512603.1:p.Arg701_Gly1417delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081526" }, { "coordinates": [ { "allele": "T", "end": 2579, "referenceAllele": "C", "start": 2578 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514302.1:c.1945C>T" ], "proteinEffect": { "hgvs": "XP_011512604.1:p.Arg649Ter", "hgvsWellDefined": "XP_011512604.1:p.Arg649_Gly1365delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081527" }, { "coordinates": [ { "allele": "T", "end": 2577, "referenceAllele": "C", "start": 2576 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514299.2:c.2344C>T" ], "proteinEffect": { "hgvs": "XP_011512601.1:p.Arg782Ter", "hgvsWellDefined": "XP_011512601.1:p.Arg782_Gly1498delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543262" }, { "coordinates": [ { "allele": "T", "end": 2397, "referenceAllele": "C", "start": 2396 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514300.2:c.2164C>T" ], "proteinEffect": { "hgvs": "XP_011512602.1:p.Arg722Ter", "hgvsWellDefined": "XP_011512602.1:p.Arg722_Gly1438delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543263" }, { "coordinates": [ { "allele": "T", "end": 2598, "referenceAllele": "C", "start": 2597 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514302.2:c.1945C>T" ], "proteinEffect": { "hgvs": "XP_011512604.1:p.Arg649Ter", "hgvsWellDefined": "XP_011512604.1:p.Arg649_Gly1365delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543264" }, { "coordinates": [ { "allele": "T", "end": 3551, "referenceAllele": "C", "start": 3550 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_017010250.1:c.3058C>T" ], "proteinEffect": { "hgvs": "XP_016865739.1:p.Arg1020Ter", "hgvsWellDefined": "XP_016865739.1:p.Arg1020_Gly1736delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564355" }, { "coordinates": [ { "allele": "T", "end": 2440, "referenceAllele": "C", "start": 2439 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_017010251.2:c.1876C>T" ], "proteinEffect": { "hgvs": "XP_016865740.1:p.Arg626Ter", "hgvsWellDefined": "XP_016865740.1:p.Arg626_Gly1342delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564356" }, { "@id": "http://reg.genome.network/allele/PA645421449", "coordinates": [ { "allele": "T", "end": 3285, "referenceAllele": "C", "start": 3284 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080680.3:c.3058C>T" ], "proteinEffect": { "hgvs": "NP_542411.2:p.Arg1020Ter", "hgvsWellDefined": "NP_542411.2:p.Arg1020_Gly1736delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699534", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341947.7:c.3058C>T" }, "RefSeq": { "hgvs": "NM_080680.3:c.3058C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000339915.2:p.Arg1020Ter" }, "RefSeq": { "hgvs": "NP_542411.2:p.Arg1020Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916057781", "coordinates": [ { "allele": "T", "end": 3027, "referenceAllele": "C", "start": 3026 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080681.3:c.2800C>T" ], "proteinEffect": { "hgvs": "NP_542412.2:p.Arg934Ter", "hgvsWellDefined": "NP_542412.2:p.Arg934_Gly1650delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699535" }, { "@id": "http://reg.genome.network/allele/PA2830129906", "coordinates": [ { "allele": "T", "end": 2964, "referenceAllele": "C", "start": 2963 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080679.3:c.2737C>T" ], "proteinEffect": { "hgvs": "NP_542410.2:p.Arg913Ter", "hgvsWellDefined": "NP_542410.2:p.Arg913_Gly1629delinsGlyAlaAlaGlySerGlyGlyProIleGlyProProGlyArgProGlyProGlnGlyProProGlyAlaAlaGlyGluLysGlyValProGlyGluLysGlyProIleGlyProThrGlyArgAspGlyValGlnGlyProValGlyLeuProGlyProAlaGlyProProGlyValAlaGlyGluAspGlyAspLysGlyGluValGlyAspProGlyGlnLysGlyThrLysGlyAsnLysGlyGluHisGlyProProGlyProProGlyProIleGlyProValGlyGlnProGlyAlaAlaGlyAlaAspGlyGluProGlyAlaArgGlyProGlnGlyHisPheGlyAlaLysGlyAspGluGlyThrArgGlyPheAsnGlyProProGlyProIleGlyLeuGlnGlyLeuProGlyProSerGlyGluLysGlyGluThrGlyAspValGlyProMetGlyProProGlyProProGlyProArgGlyProAlaGlyProAsnGlyAlaAspGlyProGlnGlyProProGlyGlyValGlyAsnLeuGlyProProGlyGluLysGlyGluProGlyGluSerGlySerProGlyIleGlnGlyGluProGlyValLysGlyProArgGlyGluArgGlyGluLysGlyGluSerGlyGlnProGlyGluProGlyProProGlyProLysGlyProThrGlyAspAspGlyProLysGlyAsnProGlyProValGlyPheProGlyAspProGlyProProGlyGluGlyGlyProArgGlyGlnAspGlyAlaLysGlyAspArgGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729056" } ], "type": "nucleotide" }